hrp0095p1-422 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A heterozygous variant of CYP3A4 in a Chinese boy with Vitamin D-dependent rickets type 3

Gu Shili , Wang Xiumin

Background: Vitamin D-dependent rickets type 3 (VDDR3) is a rare autosomal dominant inheritance disease, which is caused by the gain-of-function mutation in CYP3A4 (c.902T>C p.Ile301Thr).Case Presentation: We report the case of a 32-month-old boy presented with discomfort of both knee-joints, poor mobility, and gait abnormality when running. Laboratory examinations revealed low concentrations of serum calcium, phospho...

hrp0092p3-265 | Late Breaking Abstracts | ESPE2019

Plasma Asprosin Concentrations are Increased and Associated with Insulin Resistance in Children with Obesity

wang min , xiao yanfeng

Objective: Asprosin, a novel peptide that has recently discovered as an important regulatory adipokine, is relevant to obesity in animals and adult humans. Little is known about its roles in children. The aim of the current study was to determine the potential role of asprosin and explore its relationship to various obesity-related markers in children with obesity.Methods: A cross-sectional study was conducted among 119 ...

hrp0089p1-p060 | Diabetes & Insulin P1 | ESPE2018

IPEX as a Result of Mutations in FOXP3 Two Case Reports and Review of the Literature

Zhu Qiong , Wang Chunlin

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations in the Forkhead/winged helix transcription factor (FOXP3) gene and is a rare disorder that increasingly has gained attention as a model of genetic autoimmunity. We report two Chinese families with IPEX and the sequencing of the FOXP3 gene.Methods: Two unrelated Chinese cases with IPEX were investigated. In case 1, the proband was a 4 month-y...

hrp0082p3-d1-708 | Diabetes | ESPE2014

Clinical Significance of Typing Fulminant Type 1 Diabetes in Children and Adolescents

Wang Yi , Gong Chunxiu

Background: Fulminant type 1 diabetes (FT1D) is presented as a severe diabetes subtype among adults, however, we have no idea whether it’s worth being taken seriously among children and adolescents.Objective and hypotheses: We aim to clarify the clinical significance of the subtype. It’s supposed that we may needn’t pay special attention to the subtype.Method: Case–control study design. Data from hospitalized al...

hrp0094p1-34 | Fat, Metabolism and Obesity A | ESPE2021

High prevalence of undiagnosed metabolic dysfunction among children and adolescents with obesity in China

Wang Jinling , Fu Junfen ,

Objective: The aim here was to describe the characteristics of obese children and adolescents and to determine how the prevalence of comorbidities differed over 10 years in China.Methods: Obese children and adolescents were enrolled from Department of Endocrinology, Children’s Hospital of Zhejiang University School of Medicine in Hangzhou (Zhejiang Province, China). Eligibility was defined by a body mass index ...

hrp0098p2-343 | Late Breaking | ESPE2024

Reshaping of the chromatin landscape and angiogenic process in umbilical vein endothelial cells of small for gestational newborns

Yan Lingling , Wang Chunlin

The condition of being small for gestational age (SGA) poses significant risks to both infant development delay and chronic non-communicable diseases in adultood, especially cardiovascular diseases. Despite the known association between SGA and endothelial dysfunction, the precise pathogenic genes and underlying mechanisms driving this pathology have remained elusive. In this study, we conducted a comprehensive evaluation of endothelial dysfunction in SGA by their increased an...

hrp0098p2-370 | Late Breaking | ESPE2024

Multiple acyl coa dehydrogenase deficiency complicated with steroidogenic diabetes: A case report

Dilong Wang , Liang Liyang

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disease characterized by disorders of fatty acid, branched-chain amino acid and energy metabolism. It can be manifested as hypoketo hypoglycemia, metabolic acidosis, muscle weakness, cardiomyopathy and so on. In terms of treatment, patients with MADD need to rely on a high-carbohydrate, low-fat and low-protein diet to improve energy metabolism disorders. At present, there are no clinical reports of MAD...

hrp0098p2-380 | Late Breaking | ESPE2024

Effect of recombinant human growth hormone therapy on postoperative lipid metabolism in children with craniopharyngioma

Dilong Wang , Liang Liyang

Objective: Growth hormone deficiency (GH) is one of the most common complications in postoperative survivors of craniopharyngioma (CP), which is closely related to short stature. recombinant human growth hormone (rhGH) is often used to correct short stature in survivors after CP in children, but its safety is still controversial on the one hand, and its effect on glucose and lipid metabolism is unclear on the other hand. The purpose of this study is to monitor...

hrp0098p3-10 | Adrenals and HPA Axis | ESPE2024

Letrozole as Treatment for Severely Advanced Bone Age in Children with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Wang Qian , Li Guimei

Objective: To investigate the feasibility and rationality of letrozole (Lz) as treatment for severely advanced bone age (BA) in children with 21-Hydroxylase Deficiency (21-OHD).Methods: This was a retrospective self-control study to test the possibility of Lz that a decrease in the rate of bone maturation and an increase in predicted adult height (PAH).Results: The improvement of h...

hrp0098p3-148 | Growth and Syndromes | ESPE2024

The Significance of Family History in the Diagnosis of Hereditary Rare Diseases: A Case Report of Misdiagnosed 1q21.1 Microdeletion Syndrome and Literature Review

Yuan Ke , Wang Chunlin

Background: 1q21.1 microdeletion syndrome is a genetic disorder characterized by a spectrum of complex clinical manifestations, including neurodevelopmental abnormalities, short stature, and cardiac anomalies. However, the phenotypic heterogeneity of this condition poses a diagnostic challenge. We report a unique case of a patient who presented solely with short stature, which was later determined not to be caused by a 1q21.1 microdeletion after comprehensive ...